Renal diseases that course with hypomagnesemia. Comments on a new hereditary hypomagnesemic tubulopathy.

Autor: Garcia-Nieto VM; Unidad de Nefrología Pediátrica, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain. Electronic address: vgarcianieto@gmail.com., Claverie-Martin F; Unidad de Investigación, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain., Moraleda-Mesa T; Unidad de Nefrología Pediátrica, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain., Perdomo-Ramírez A; Unidad de Investigación, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain., Fraga-Rodríguez GM; Nefrologia Pediàtrica, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain., Luis-Yanes MI; Unidad de Nefrología Pediátrica, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain., Ramos-Trujillo E; Unidad de Investigación, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain; Departamento de Medicina Física y Farmacología, Facultad de Medicina, Universidad de la Laguna, Santa Cruz de Tenerife, Spain.
Jazyk: angličtina
Zdroj: Nefrologia [Nefrologia (Engl Ed)] 2024 Jan-Feb; Vol. 44 (1), pp. 23-31. Date of Electronic Publication: 2024 Feb 12.
DOI: 10.1016/j.nefroe.2024.02.003
Abstrakt: Renal diseases associated with hypomagnesemia are a complex and diverse group of tubulopathies caused by mutations in genes encoding proteins that are expressed in the thick ascending limb of the loop of Henle and in the distal convoluted tubule. In this paper, we review the initial description, the clinical expressiveness and etiology of four of the first hypomagnesemic tubulopathies described: type 3 Bartter and Gitelman diseases, Autosomal recessive hypomagnesemia with secondary hypocalcemia and Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. The basic biochemical patterns observed in renal tubular hypomagnesemias and the modalities of transport and interaction that occur between the transporters involved in the reabsorption of magnesium in the distal convoluted tubule are described below. Finally, the recent report of a new renal disease with hypomagnesemia, type 2 hypomagnesemia with secondary hypocalcemia caused by reduced TRPM7 channel activity is described.
(Copyright © 2024. Published by Elsevier España, S.L.U.)
Databáze: MEDLINE